International Journal of Vascular Medicine / 2013 / Article / Tab 1

Review Article

Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections

Table 1

Aneurysm syndromes.

Genetic aneurysm syndromes

Marfan syndrome (MFS) FBN1Dilatation and aneurysm of the aortic root, dilatation of the pulmonary artery, and dilatation or dissection of the descending thoracic or abdominal aorta

Ehlers-Danlos syndrome (EDS)COL5A1, COL5A2, and COL3A1 Arterial mid-sized rupture, specially involving thoracic or abdominal vessels. Frequently descending and abdominal aorta [18]

Loeys-Dietz syndrome (LDS)TGFBR1 and TGFBR2 Premature and aggressive aneurysms and dissections. Aneurysms distal to the aortic root

Familial aortic aneurysm and/or dissection syndromes (FAAD)TGFBR2, MYH11, and ACTA2 Ascending aorta aneurysm and dissection

Bicuspid aortic valve (BAV)UnknownAortic dilation typically involves the aortic root and ascending aorta whereas it is not present in the descending and abdominal aorta

Autosomal dominant polycystic kidney disease (ADPKD) PKD1 and PKD2 Dilatation of the aortic root and dissection of the thoracic aorta

Turners45XThoracic aortic aneurysms and dissections

NeurofibromatosisNF1Aneurysmal arterial disease affecting the abdominal aorta

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